Individual #00021161

Reference -
Gender F
Geographic origin Thrace
Geographic origin Thessaloniki
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013613 54y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006898 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
7 Parent #2 ?/? g.116436095C>T - MET_000006 rs765332671 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.4090C>T, NM_001127500.1:c.4144C>T r.(?) p.(Pro1364Ser), p.(Pro1382Ser)
10 Parent #2 ?/? g.72357763A>G - PRF1_000016 rs140956842 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.*46T>C, NM_005041.4:c.*46T>C r.(=) p.(=)
11 Parent #2 -/- g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.306G>C, NM_001243777.1:c.333G>C, NM_014679.4:c.333G>C r.(?) p.(Gln102His), p.(Gln111His)
11 Parent #2 -?/-? g.108121636A>C - ATM_000083 rs202173660 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1444A>C r.(?) p.(Lys482Gln)
13 Parent #2 +/+ g.32936830G>A - BRCA2_000252 rs80359027 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7976G>A r.(?) p.(Arg2659Lys)
14 Parent #2 ?/? g.45623852A>G - FANCM_000062 rs374213749 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1184-48A>G r.(=) p.(=)
16 Parent #2 -/- g.2138546G>A - TSC2_000004 rs45517419 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5359G>A, NM_001077183.1:c.5158G>A, NM_001114382.1:c.5290G>A r.(?) p.(Gly1787Ser), p.(Gly1720Ser), p.(Gly1764Ser)
16 Parent #2 ?/? g.50825440T>C - CYLD_000001 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2100-29T>C, NM_001042412.1:c.2100-29T>C, NM_015247.2:c.2109-29T>C r.(=) p.(=)
Legend